MND is currently unique in that it is one of the most actively sequenced human diseases with thousands of patient genomes being sequenced in the UK, EU and USA. Sequencing at the level of the genes or whole genomes is resulting in data that represent a whole new challenge and also a powerful new opportunity to understand the root causes of the disease. The challenge is that sequencing is not yet matched by the ability to act on the data it produces. Each genome can provide insight into the best potential for treatment for each patient but this can only occur if a reliable set of approaches is developed to interpret MND genomes.
Using a combination of computational biology, modelling and functional genomics, Professor Winston Hide has established a Centre for Genome Translation in Sheffield that provides prioritisation of key genes and pathways essential to the progression of the disease.
Working closely with genome sequencing consortia, the Harvard Stem Cell Institute and industry, the Centre translates genome information into systems that can be tested within the research groups at SITraN using model organisms and human induced pluripotent stem cells.
In turn, the Centre is able to evaluate the therapeutic potential of candidate repurposed drugs that can be rapidly tested in humans.
Interactive development of models from heterogenous high dimensional data. Working with data generators, data is captured from genome studies, basic research and clinical research.
It is integrated and analysed to result in models that are assessed for their predictive capacity through iterations of in silico and wet lab validation.